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Hyperparathyroidism

DOID EFO Endpoint Browser PheWeb

E4_HYPERPARA

hyperparathyroidism: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E21.09, E21.1, E21.2, E21.3
  • Hospital discharge: ICD-9 — 2520
  • Hospital discharge: ICD-8 — 2520
  • Cause of death: ICD-10 — E21.09, E21.1, E21.2, E21.3
  • Cause of death: ICD-9 — 2520
  • Cause of death: ICD-8 — 2520
  • Medicine purchases: ATC — H05B

3 out of 7 registries used, show all original rules.

6299

4. Check minimum number of events

Min. number of events 3
6299

5. Include endpoints

None

6299

6. Filter based on genotype QC (FinnGen only)

6094

Control definitions (FinnGen only)

Control exclude E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 72939 59029 13215
Only index persons 55193 45073 10120
Unadjusted period prevalence (%)
Whole population 1.44 1.69 0.37
Only index persons 1.42 1.66 0.39
Median age at first event (years)
Whole population 72.51 73.24 69.20
Only index persons 70.78 71.59 67.15

-FinnGen-

Key figures

All Female Male
Number of individuals 6094 4430 1664
Unadjusted period prevalence (%) 1.65 1.92 0.92
Median age at first event (years) 64.70 63.98 66.62

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_HYPERPARA – Hyperparathyroidism

GWS hits: 9

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